Lysosomal acid lipase (LAL) deficiency is a rare but serious disease. Under normal conditions, human body produces lysosomal acid lipase (LAL), an enzyme that breaks down fatty material (cholesteryl esters and triglycerides). LAL Deficiency happens when the body is not producing enough LAL. The lack of the LAL enzyme typically results in a massive build-up of fatty material in various tissues including liver, spleen, gut, blood vessel walls and other important organs. As a result, LAL deficiency is typically associated with significant morbidity and mortality and can affect individuals from infancy through adulthood.
Extremely low levels of the LAL enzyme typically causes early onset of LAL Deficiency, sometimes called Wolman Disease (also known as Wolman's disease, Wolman's syndrome). Early onset LAL Deficiency typically affects infants in the first year of life. For example, the build-up of fatty material in the cells of the gut prevents the body from absorbing nutrients. Consequently, Wolman disease is a rapidly progressive and typically fatal condition characterized by malabsorption, growth failure and significant weight loss. These infants typically die during their first year of life from a failure to grow and from other complications due to liver failure.
Later onset LAL Deficiency is sometimes called Cholesteryl Ester Storage Disease (CESD) and can affect children and adults. Typically, CESD patients experience enlarged liver (hepatomegaly), cirrhosis, chronic liver failure, severe premature atherosclerosis, hardening of the arteries, or elevated levels of serum Low Density Lipoprotein (LDL). Children may also have calcium deposits in the adrenal glands and develop jaundice.
Currently, there is no approved therapy for LAL deficiency.